rs121913444, EGFR

N. diseases: 17
Source: BEFREE ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.040 GeneticVariation BEFREE Subanalysis of clinical trials, and real-world data, demonstrate that EGFRs with defined, but uncommon mutations such as G719X, S768I, and L861Q are sensitive to afatinib, which is now approved for tumors harboring these mutations. 31558282 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.040 GeneticVariation BEFREE Through an evolutionary analysis of the sequencing results, the EGFR p.L861Q mutation was determined to play a role in the progression from the primary tumor to a relapsing tumor in one patient. 31822636 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.040 GeneticVariation BEFREE EGFR L858M/L861Q mutations in cis were detected in the tumor of a patient with NSCLC. 28088511 2017
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.040 GeneticVariation BEFREE Seven months after initial diagnosis, the primary tumor enlarged again, and a second biopsy from the enlarged lesion detected only adenocarcinoma with the L861Q mutation. 24195468 2013